keyword
https://read.qxmd.com/read/38493133/blood-based-biomarkers-in-patients-with-non-small-cell-lung-cancer-treated-with-immune-checkpoint-blockade
#1
REVIEW
Yo-Ting Tsai, Jeffrey Schlom, Renee N Donahue
The paradigm of non-small cell lung cancer (NSCLC) treatment has been profoundly influenced by the development of immune checkpoint inhibitors (ICI), but the range of clinical responses observed among patients poses significant challenges. To date, analyses of tumor biopsies are the only parameter used to guide prognosis to ICI therapy. Tumor biopsies, however, are often difficult to obtain and tissue-based biomarkers are limited by intratumoral heterogeneity and temporal variability. In response, there has been a growing emphasis on the development of "liquid biopsy"‒ derived biomarkers, which offer a minimally invasive means to dynamically monitor the immune status of NSCLC patients either before and/or during the course of treatment...
March 16, 2024: Journal of Experimental & Clinical Cancer Research: CR
https://read.qxmd.com/read/38493067/feasibility-of-next-generation-sequencing-of-liquid-biopsy-circulating-tumor-dna-samples-and-tumor-tissue-from-patients-with-metastatic-prostate-cancer-in-a-real-world-clinical-setting-in-germany
#2
JOURNAL ARTICLE
Philipp Mandel, Benedikt Hoeh, Clara Humke, Claudia Doering, Mike Wenzel, Cristina Cano Garcia, Nina Fuhr, Florestan Koll, Anne Fassl, Derya Tilki, Thomas Steuber, Iris Faull, Jan Jeroch, Silvana Ebner, Christina Schmitt, Henning Reis, Jens Köllermann, Konstantinos D Kokkaliaris, Melanie C Demes, Felix K H Chun, Peter J Wild
BACKGROUND AND OBJECTIVE: With European Medicines Agency approval of PARP inhibitors in metastatic castration-resistant prostate cancer and ongoing trials in metastatic hormone-sensitive prostate cancer, detection of genetic alterations in BRCA1/2 and other homologous recombination repair genes has gained an important role. Our aim was to investigate the feasibility and comparability of comprehensive next-generation sequencing (NGS) of liquid biopsy (LB; circulating tumor DNA) and tumor tissue (TT) samples in a real-world clinical setting...
March 15, 2024: European Urology Focus
https://read.qxmd.com/read/38493021/preclinical-efficacy-of-raf-mek-clamp-avutometinib-in-combination-with-fak-inhibition-in-low-grade-serous-ovarian-cancer
#3
JOURNAL ARTICLE
Blair McNamara, Cem Demirkiran, Tobias Max Philipp Hartwich, Stefania Bellone, Diego Manavella, Levent Mutlu, Michelle Greenman, Margherita Zipponi, Yang Yang-Hartwich, Kevin Yang, Elena Ratner, Peter E Schwartz, Silvia Coma, Jonathan A Pachter, Alessandro D Santin
OBJECTIVES: Low-grade-serous-ovarian-carcinoma (LGSOC) is characterized by a high recurrence rate and limited therapeutic options. About one-third of LGSOC contains mutations in MAPK pathway genes such as KRAS/NRAS/BRAF. Avutometinib is a dual RAF/MEK inhibitor while defactinib and VS-4718 are focal-adhesion-kinase-inhibitors (FAKi). We determined the preclinical efficacy of avutometinib±VS-4718 in LGSOC patient-derived-tumor-xenografts (PDX). METHODS: Whole-exome-sequencing (WES) was used to evaluate the genetic fingerprint of 3 patient-derived LGSOC (OVA(K)250, PERIT(M)17 and A(PE)148)...
February 9, 2024: Gynecologic Oncology
https://read.qxmd.com/read/38493013/mutagenesis-techniques-for-evolutionary-engineering-of-microbes-exploiting-crispr-cas-oligonucleotides-recombinases-and-polymerases
#4
REVIEW
Anna Zimmermann, Julian E Prieto-Vivas, Karin Voordeckers, Changhao Bi, Kevin J Verstrepen
The natural process of evolutionary adaptation is often exploited as a powerful tool to obtain microbes with desirable traits. For industrial microbes, evolutionary engineering is often used to generate variants that show increased yields or resistance to stressful industrial environments, thus obtaining superior microbial cell factories. However, even in large populations, the natural supply of beneficial mutations is typically low, which implies that obtaining improved microbes is often time-consuming and inefficient...
March 15, 2024: Trends in Microbiology
https://read.qxmd.com/read/38492821/mutational-profile-evaluates-metastatic-capacity-of-chinese-colorectal-cancer-patients-revealed-by-whole-exome-sequencing
#5
JOURNAL ARTICLE
Yian Yang, Jiawei Chen, Honghua Peng, Zhigang Xiao, Wei Xu, Mingchuan Zheng, Zheng Li, Peiguo Cao
Colorectal cancer (CRC) is the third most common cancer and the prevalence rate of CRC is increasing in the China. In this study, whole-exome sequencing (WES) was performed on primary tissues of 47 CRC Chinese patients including 22 metastatic and 25 non-metastatic patients. By comparison with data from western colorectal cancer patients in the Cancer Genome Atlas (TCGA), we identified a number of genes that are more likely to be mutated in Chinese colorectal cancer patients, such as MUC12, MUC12, MUC2, MUC4, HYDIN and KMT2C...
March 14, 2024: Genomics
https://read.qxmd.com/read/38492416/a-novel-homozygous-nonsense-variant-of-ak7-is-associated-with-multiple-morphological-abnormalities-of-the-sperm-flagella
#6
JOURNAL ARTICLE
Tianli Chang, Hongying Tang, Xu Zhou, Jingliang He, Nenghui Liu, Yanping Li, Wenpei Xiang, Zhongyuan Yao
RESEARCH QUESTION: Is the novel homozygous nonsense variant of AK7 associated with multiple morphological abnormalities of the sperm flagella (MMAF), a specific type of oligoasthenoteratozoospermia leading to male infertility? DESIGN: Whole-exome sequencing and Sanger sequencing were performed to identify potential gene variants. Immunoblotting and immunofluorescence were applied to confirm the relationship between mutated genes and disease phenotypes. The concentration of reactive oxygen species and the rate of apoptosis were measured to evaluate the mitochondrial function of spermatozoa...
December 8, 2023: Reproductive Biomedicine Online
https://read.qxmd.com/read/38492198/characteristics-of-chronic-lymphocytic-leukemia-in-japan-comprehensive-analysis-of-the-cllrsg-01-study
#7
JOURNAL ARTICLE
Jun Takizawa, Ritsuro Suzuki, Koji Izutsu, Toru Kiguchi, Hideki Asaoku, Yoshio Saburi, Taro Masunari, Atae Utsunomiya, Kengo Takeuchi, Naoya Nakamura, Koichi Ohshima, Michaela Gruber, Ulrich Jäger, Sadao Aoki, Junji Suzumiya
Chronic lymphocytic leukemia (CLL) is rare in Japan. We conducted the nationwide, prospective observational study CLLRSG-01 to clarify the current state of CLL in Japan and to make accurate international comparisons by preparing naturally air-dried smears like those used in other countries. Of the 201 untreated patients enrolled and evaluated, 119 were diagnosed with CLL and 82 with non-CLL mature B-cell neoplasms, based on the WHO classification. Of the 119 CLL patients, 90 were classified as typical and 29 as atypical according to FAB classification morphology, with the proportion of atypical CLL consistent with reports from other countries...
March 16, 2024: International Journal of Hematology
https://read.qxmd.com/read/38492167/epidemiology-diagnosis-and-genetics-of-retinoblastoma-icmr-consensus-guidelines
#8
REVIEW
Lata Singh, Girish Chinnaswamy, Rachna Meel, Venkatraman Radhakrishnan, Renu Madan, Suyash Kulkarni, Archana Sasi, Tanvir Kaur, R S Dhaliwal, Sameer Bakhshi
Retinoblastoma (RB) is the most common intraocular tumor in childhood. It is mainly caused by mutations in both alleles of the RB1 tumor suppressor gene that is found on chromosome 13 and regulates the cell cycle. Approximately 8000 children are diagnosed with RB globally each year, with an estimated 1500 cases occurring in India. The survival rate of RB has improved to more than 90% in the developed world. Leukocoria and proptosis are the most common presenting features of RB in Asian Indian populations. Most cases of RB are diagnosed by fundus examination followed by ultrasound...
March 16, 2024: Indian Journal of Pediatrics
https://read.qxmd.com/read/38492164/quantitative-evaluation-of-stance-as-a-sensitive-biomarker-of-postural-ataxia-development-in-preclinical-sca1-mutation-carriers
#9
JOURNAL ARTICLE
Anna Sobanska, Leszek Czerwosz, Anna Sulek, Rafal Rola, Iwona Stepniak, Maria Rakowicz
The aim of this study was to determine the time between the first detection of postural control impairments and the evident manifestation of ataxia in preclinical SCA1 individuals. Twenty five preclinical SCA1 mutation carriers: 13 with estimated disease onset ≤ 6 years (SCA1 +) aged 27.8 ± 8.1 years; 12 with expected disease onset > 6 years (SCA1-) aged 26.6 ± 3.1 years and 26 age and sex matched healthy controls (HCs) underwent static posturography during 5 years of observation...
March 16, 2024: Cerebellum
https://read.qxmd.com/read/38491825/the-outcome-in-patients-with-braf-mutated-metastatic-melanoma-treated-with-anti-programmed-death-receptor-1-monotherapy-or-targeted-therapy-in-the-real-world-setting
#10
JOURNAL ARTICLE
Jindřich Kopecký, Marek Pásek, Radek Lakomý, Bohuslav Melichar, Ivona Mrazová, Ondřej Kubeček, Monika Arenbergerová, Radmila Lemstrová, Alžběta Švancarová, Vojtěch Tretera, Alžběta Hlodáková, Kamila Žváčková
BACKGROUND: Immunotherapy and targeted therapy are currently two alternative backbones in the therapy of BRAF-mutated malignant melanoma. However, predictive biomarkers that would help with treatment selection are lacking. METHODS: This retrospective study investigated outcomes of anti-programmed death receptor-1 monotherapy and targeted therapy in the first-line setting in patients with metastatic BRAF-mutated melanoma, focusing on clinical and laboratory parameters associated with treatment outcome...
March 2024: Cancer Medicine
https://read.qxmd.com/read/38491801/construction-of-a-prognostic-model-for-breast-cancer-based-on-moonlighting-genes
#11
JOURNAL ARTICLE
Ming Zhang, Dejie Zhang, Qicai Wang, Guoliang Lin
Breast cancer (BRCA) is a highly heterogeneous disease, with significant differences in prognosis among patients. Existing biomarkers and prognostic models have limited ability to predict BRCA prognosis. Moonlighting genes regulate tumor progression and are associated with cancer prognosis. This study aimed to construct a moonlighting gene-based prognostic model for BRCA. We obtained differentially expressed genes (DEGs) in BRCA from The Cancer Genome Atlas and intersected them with moonlighting genes from MoonProt to acquire differential moonlighting genes...
March 16, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38491267/outcomes-of-venous-thromboembolism-in-patients-with-inherited-thrombophilia-treated-with-direct-oral-anticoagulants-insights-from-the-riete-registry
#12
JOURNAL ARTICLE
Omri Cohen, Gili Kenet, Sarina Levy-Mendelovich, Inna Tzoran, Benjamin Brenner, Cristina De Ancos, Patricia López-Miguel, José F Varona, Judith Catella, Manuel Monreal
While direct oral anticoagulants (DOACs) are frequently used to treat venous thromboembolism (VTE), the outcomes of patients with inherited thrombophilia (IT) receiving DOACs for VTE remain understudied. We used data from the international RIETE registry to compare the rates of VTE recurrences, major bleeding, and mortality during anticoagulant treatment in VTE patients with and without IT, grouped by the use of DOACs or standard anticoagulant therapy. Among 103,818 enrolled patients, 21,089 (20.3%) were tested for IT, of whom 8422 (39...
March 16, 2024: Journal of Thrombosis and Thrombolysis
https://read.qxmd.com/read/38490496/somatic-mutations-in-human-ageing-new-insights-from-dna-sequencing-and-inherited-mutations
#13
REVIEW
Kasit Chatsirisupachai, João Pedro de Magalhães
The accumulation of somatic mutations is a driver of cancer and has long been associated with ageing. Due to limitations in quantifying mutation burden with age in non-cancerous tissues, the impact of somatic mutations in other ageing phenotypes is unclear. Recent advances in DNA sequencing technologies have allowed the large-scale quantification of somatic mutations in ageing tissues. These studies have revealed a gradual accumulation of mutations in most normal tissues with age as well as a substantial clonal expansion driven mostly by cancer-related mutations...
March 13, 2024: Ageing Research Reviews
https://read.qxmd.com/read/38490361/recombination-and-repeat-induced-point-mutation-landscapes-reveal-trade-offs-between-the-sexual-and-asexual-cycles-of-magnaporthe-oryzae
#14
JOURNAL ARTICLE
Xifang Zong, Yaxin Lou, Mengshuang Xia, Kunyang Zhao, Jingxuan Chen, Ju Huang, Sihai Yang, Long Wang
The fungal disease caused by Magnaporthe oryzae is one of the most devastating diseases that endangers many crops worldwide. Evidences show that sexual reproduction can be advantageous for fungal diseases as hybridization facilitates host-jumping. However, the pervasive clonal lineages of M. oryzae observed in natural fields contradict this expectation. A better understanding of the roles of recombination and the fungi-specific repeat-induced point (RIP) mutation in shaping its evolutionary trajectory is essential to bridge this knowledge gap...
March 13, 2024: Journal of Genetics and Genomics
https://read.qxmd.com/read/38489807/influence-of-socioeconomic-status-on-clinical-outcomes-of-diffuse-midline-glioma-and-diffuse-intrinsic-pontine-glioma
#15
JOURNAL ARTICLE
John H Lee, Katherine G Holste, Momodou G Bah, Andrea T Franson, Hugh J L Garton, Cormac O Maher, Karin M Muraszko
OBJECTIVE: Given the lack of a definitive treatment and the poor prognosis of patients with diffuse midline glioma (DMG) and diffuse intrinsic pontine glioma (DIPG), socioeconomic status (SES) may affect treatment access and therefore survival. Therefore, this study aimed to examine the relationship between SES and treatment modalities, progression-free survival (PFS), and overall survival (OS) in children with DMG/DIPG. METHODS: A retrospective, single-institution review was conducted of medical records of patients ≤ 18 years of age who had DMG or DIPG that was diagnosed between 2000 and 2022...
March 15, 2024: Journal of Neurosurgery. Pediatrics
https://read.qxmd.com/read/38489728/clinical-responses-to-vemurafenib-in-postoperative-recurrence-of-papillary-thyroid-carcinoma-with-esophageal-fistula-a-case-report
#16
JOURNAL ARTICLE
Sicheng He, Wei Lu, Xun Ding, Jun Zhou, Di Liu, Yang Zhu, Fugang Yang, Zanmei Fu
BACKGROUND: While papillary thyroid carcinoma (PTC) generally exhibits a favorable prognosis post-surgery, the poorly differentiated subtype presents elevated rates of postoperative recurrence. Certain aggressive cases demonstrate invasive behavior, compromising adjacent structures and leading to a poor prognosis. This study delineates a unique case of postoperative PTC recurrence, complicated by esophageal fistula, that showed favorable outcomes following brief Vemurafenib treatment...
March 15, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38489394/the-evolutionary-safety-of-mutagenic-drugs-should-be-assessed-before-drug-approval
#17
JOURNAL ARTICLE
Gabriela Lobinska, Vyacheslav Tretyachenko, Orna Dahan, Martin A Nowak, Yitzhak Pilpel
Some drugs increase the mutation rate of their target pathogen, a potentially concerning mechanism as the pathogen might evolve faster toward an undesired phenotype. We suggest a four-step assessment of evolutionary safety for the approval of such treatments.
March 15, 2024: PLoS Biology
https://read.qxmd.com/read/38489371/increased-genomic-instability-and-reshaping-of-tissue-microenvironment-underlie-oncogenic-properties-of-arid1a-mutations
#18
JOURNAL ARTICLE
Alessandro D'Ambrosio, Davide Bressan, Elisa Ferracci, Francesco Carbone, Patrizia Mulè, Federico Rossi, Caterina Barbieri, Elisa Sorrenti, Gaia Fiaccadori, Thomas Detone, Elena Vezzoli, Salvatore Bianchi, Chiara Sartori, Simona Corso, Akihisa Fukuda, Giovanni Bertalot, Andrea Falqui, Mattia Barbareschi, Alessandro Romanel, Diego Pasini, Fulvio Chiacchiera
Oncogenic mutations accumulating in many chromatin-associated proteins have been identified in different tumor types. With a mutation rate from 10 to 57%, ARID1A has been widely considered a tumor suppressor gene. However, whether this role is mainly due to its transcriptional-related activities or its ability to preserve genome integrity is still a matter of intense debate. Here, we show that ARID1A is largely dispensable for preserving enhancer-dependent transcriptional regulation, being ARID1B sufficient and required to compensate for ARID1A loss...
March 15, 2024: Science Advances
https://read.qxmd.com/read/38489353/evolutionary-graph-theory-beyond-pairwise-interactions-higher-order-network-motifs-shape-times-to-fixation-in-structured-populations
#19
JOURNAL ARTICLE
Yang Ping Kuo, Oana Carja
To design population topologies that can accelerate rates of solution discovery in directed evolution problems or for evolutionary optimization applications, we must first systematically understand how population structure shapes evolutionary outcome. Using the mathematical formalism of evolutionary graph theory, recent studies have shown how to topologically build networks of population interaction that increase probabilities of fixation of beneficial mutations, at the expense, however, of longer fixation times, which can slow down rates of evolution, under elevated mutation rate...
March 15, 2024: PLoS Computational Biology
https://read.qxmd.com/read/38488948/somatic-mutations-in-aging-and-disease
#20
REVIEW
Peijun Ren, Jie Zhang, Jan Vijg
Time always leaves its mark, and our genome is no exception. Mutations in the genome of somatic cells were first hypothesized to be the cause of aging in the 1950s, shortly after the molecular structure of DNA had been described. Somatic mutation theories of aging are based on the fact that mutations in DNA as the ultimate template for all cellular functions are irreversible. However, it took until the 1990s to develop the methods to test if DNA mutations accumulate with age in different organs and tissues and estimate the severity of the problem...
March 15, 2024: GeroScience
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